Zoledziewska, Magdalena and Costa, Gianna and Pitzalis, Maristella and Cocco, Eleonora and Melis, Maria Cristina and Moi, Loredana and Zavattari, Patrizia and Murru, Raffaele and Lampis, Rosanna and Morelli, Laura Cornelia Clotilde and Poddie, Fausto Pier'Angelo and Frongia, Patrizia and Pusceddu, Pierpaolo and Bajorek, Michele and Marras, A. and Satta, Maria Anna and Chessa, A. and Pugliatti, Maura and Sotgiu, Stefano and Whalen, Michael B. and Rosati, Giulio and Cucca, Francesco and Marrosu, Maria Giovanna (2009) Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia. Genes and Immunity, Vol. 10 (1), p. 15-17. eISSN 1476-5470. Article.
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Variation within intron 19 of the CLEC16A (KIAA0350) gene region was recently found to be unequivocally associated with type 1 diabetes (T1D) in genome-wide association (GWA) studies in Northern European populations. A variant in intron 22 that is nearly independent of the intron 19 variant showed suggestive evidence of association with multiple sclerosis (MS). Here, we genotyped the rs725613 polymorphism, representative of the earlier reported associations with T1D within CLEC16A, in 1037 T1D cases, 1498 MS cases and 1706 matched controls, all from the founder, autoimmunity-prone Sardinian population. In these Sardinian samples, allele A of rs725613 is positively associated not only with T1D (odds ratio=1.15, P one-tail=5.1 × 10−3) but also, and with a comparable effect size, with MS (odds ratio=1.21, P one-tail 6.7 × 10−5). Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway.
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